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. 2018 Apr 25;17:61. doi: 10.1186/s12933-018-0705-0

Table 1.

Lead SNPs in discovery and replication

Discovery Replication
CHR BP Locus SNP Type of variation EA/NEAa EAFb ORc Pd Directione I2 f Phet g EAF OR Ph Direction I2 Phet
1 205484373 CDK18 rs138760780 Intronic T/C 0.018 3.48 9.20 10−6 +++ 0 0.943 0.020 1.88 0.014 ++++− 0 0.509
2 97455276 CNNM4 rs116656846 Intronic A/G 0.023 2.57 9.88 10−6 +++ 0 0.661 0.028 0.89 0.696 −+− 0 0.876
2 155225182 GALNT13 rs17206992 Intronic G/A 0.057 2.32 6.33 10−6 +++ 0 0.817 0.052 0.97 0.580 ++−+− 0 0.934
2 177645590 AC092162.1 rs113517532 Intergenic AGAT/A 0.106 1.75 1.90 10−6 +++ 0 0.912 0.105 0.86 0.887 +−+− 0 0.658
3 13370674 NUP210 rs73018809 Intronic T/A 0.024 3.50 1.89 10−7 +++ 59.1% 0.087 0.022 0.60 0.955 −+ 0 0.722
3 103975418 MIR548A3 rs28641753 Intergenic T/C 0.071 2.10 1.59 10−7 +++ 0 0.863 0.067 1.02 0.440 −++− 62.70% 0.030
4 6171230 JAKMIP1 rs78031527 Intronic T/C 0.201 1.70 5.41 10−6 +++ 0 0.493 0.209 1.13 0.114 ++−+− 0 0.622
5 10500646 ROPN1L rs143537377 Intronic C/A 0.096 1.88 7.89 10−6 +++ 1.1% 0.577 0.100 0.85 0.885 −+−+ 19.20% 0.292
5 71394387 MAP1B rs115829748 Intergenic T/C 0.040 3.16 1.36 10−9 +++ 71.9% 0.028 0.036 1.13 0.283 −+++− 0 0.655
6 95557471 MANEA-AS1 rs9354144 Intergenic A/T 0.105 1.71 5.78 10−6 +++ 0 0.785 0.097 1.05 0.330 −++− 23.90% 0.262
8 73842523 KCNB2 rs571622299 Intronic A/G 0.015 4.12 6.47 10−6 +++ 47.2% 0.150 NA NA NA NA NA NA
9 37034095 PAX5 rs143723948 UTR5 T/C 0.499 1.65 6.01 10−7 +++ 0 0.985 NA NA NA NA NA NA
9 71955717 FAM189A2 rs12344245 Intronic G/A 0.035 2.52 9.23 10−6 +++ 0 0.950 0.038 1.45 0.022 +−+++ 0 0.560
10 19457387 ARL5B rs117826205 Intronic C/T 0.026 2.72 6.30 10−6 +++ 0 0.482 0.029 1.11 0.315 −++ 5.70% 0.374
11 8080425 TUB rs61879614 Intronic C/T 0.048 2.94 2.60 10−6 +++ 9.4% 0.332 0.046 1.11 0.300 +− 0 0.775
16 2160973 PKD1 rs116092985 Missense (W1399R) G/A 0.097 1.85 1.72 10−5 +++ 29.5% 0.242 0.096 1.29 0.026 ++++− 0 0.488
17 4328164 SPNS3 rs34319244 Intergenic C/CT 0.440 1.51 2.59 10−6 +++ 48.8% 0.142 NA NA NA NA NA NA
18 45399356 SMAD2 rs113114656 Intronic T/C 0.040 2.67 2.30 10−6 +++ 2.4% 0.359 0.038 1.04 0.437 −++−+ 43.40% 0.132
21 21347156 NCRNA00320 rs67213764 Intergenic G/A 0.261 1.48 9.28 10−6 +++ 0 0.536 0.260 1.03 0.363 ++− 32.20% 0.207
21 24929109 AP000459.7 rs12482425 Intergenic A/G 0.314 0.66 9.33 10−6 0 0.509 0.308 1.09 0.871 +++++ 0 0.931
22 25988780 ADRBK2 rs373009901 Intronic C/G 0.019 3.94 9.42 10−6 +++ 0 0.599 NA NA NA NA NA NA

aEstimated allele/non estimated allele

bAllele frequency of the estimate allele

cOdds ratio for disease

dAssociation p value derived from the meta-analysis of the three discovery cohorts

eDirectionality of the effects across the contributing cohorts

fI2 statistics for heterogeneity across the contributing cohorts

gp value for homogeneity across the contributing cohorts

hOne sided test p value of association